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New hope offered to rare disease patients

By ZHOU WENTING in Shanghai | China Daily | Updated: 2021-12-14 08:18
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A 10-month-old patient with spinal muscular atrophy, or SMA, is taken to the hospital in Maoming, Guangdong province, in February. Provided to China Daily

Early this month, the world's first therapy to treat spinal muscular atrophy, or SMA, a rare genetic disorder that affects muscle control, was added to the National Reimbursement Drug List in China.

It was the first time that a highly expensive drug to treat a rare condition had been included on the list.

This means that most children who have SMA, which results in death in 95 percent of patients up to 18 months of age, can be saved by an injection at a far more affordable price than previously. Patients who have reached adulthood can also benefit from the therapy.

The treatment was priced at 700,000 yuan ($109,800) per dose when it was launched in China in April 2019. Official data showed that only 50 patients in the country had used it, paying the full price before the therapy was included on the national list. There are estimated to be 20,000 to 30,000 SMA patients in China.

Parents whose children have SMA said they had waited years for affordable medication, adding that it was unbelievable that their dreams had eventually come true.

Xing Huanping, executive director of the Mei'er Advocacy and Support Center for SMA, which has some 2,000 patients registered nationwide, said: "Almost all the parents burst into tears on hearing this news. This disease has put them through the mill, but finally the availability of the therapy, which once had a sky-high price, has offered them a ray of hope.

"The families are grateful to the government not giving up on this small patient community and to the pharmaceutical company's sincerity in providing the world's lowest price for the medication and choosing to stand with them," she said.

In addition to the SMA injection developed by Biogen, which is based in the United States, six other therapies to treat rare diseases have been added to the updated National Reimbursement Drug List, which takes effect next month. They include the world's first and only drug approved to treat walking impairments among patients with multiple sclerosis, which was filed with the National Medical Products Administration this year and given market approval in May.

Feng Jiamei, founder and director-general of the Mei'er center, said, "These past five years have seen tremendous developments in national policies, medical solutions and social awareness of rare diseases.

"With improved drug accessibility and affordability, we believe the plight of patients will be significantly changed. They're expected to survive with a better quality of life and be both a reduced family and economic burden."

Rare diseases have attracted increased public attention.

In 2018, China's first rare disease list, comprising 121 such diseases, was drawn up. A series of measures has also been announced to encourage research into these diseases and the development of orphan drugs-those used to treat rare medical conditions, but which are unprofitable to produce without government assistance.

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